NP_000100.2
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NCBI GenBank Nucleotide #
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UniProt Primary Accession #
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
57,953 Da
NCBI Official Full Name
dystrophin isoform Dp427c
NCBI Official Synonym Full Names
dystrophin
NCBI Official Synonym Symbols
BMD; CMD3B; MRX85; DXS142; DXS164; DXS206; DXS230; DXS239; DXS268; DXS269; DXS270; DXS272 [Similar Products]
NCBI Protein Information
dystrophin
UniProt Protein Name
Dystrophin
NCBI Summary for DMD
This gene spans a genomic range of greater than 2 Mb and encodes a large protein containing an N-terminal actin-binding domain and multiple spectrin repeats. The encoded protein forms a component of the dystrophin-glycoprotein complex (DGC), which bridges the inner cytoskeleton and the extracellular matrix. Deletions, duplications, and point mutations at this gene locus may cause Duchenne muscular dystrophy (DMD), Becker muscular dystrophy (BMD), or cardiomyopathy. Alternative promoter usage and alternative splicing result in numerous distinct transcript variants and protein isoforms for this gene. [provided by RefSeq, Dec 2016]
UniProt Comments for DMD
Anchors the extracellular matrix to the cytoskeleton via F-actin. Ligand for dystroglycan. Component of the dystrophin-associated glycoprotein complex which accumulates at the neuromuscular junction (NMJ) and at a variety of synapses in the peripheral and central nervous systems and has a structural function in stabilizing the sarcolemma. Also implicated in signaling events and synaptic transmission.
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Products associated with anti-DMD antibody
Pathways associated with anti-DMD antibody
Diseases associated with anti-DMD antibody
Disease Name |
Pubmed Publications |
Muscular Dystrophy, Duchenne Antibodies |
>4161 publications with DMD and Muscular Dystrophy, Duchenne |
CARDIOMYOPATHY, DILATED, 3B Antibodies |
>4161 publications with DMD and CARDIOMYOPATHY, DILATED, 3B |
Nervous System Diseases Antibodies |
>3683 publications with DMD and Nervous System Diseases |
Muscular Dystrophies Antibodies |
>3518 publications with DMD and Muscular Dystrophies |
Muscular Dystrophy, Animal Antibodies |
>874 publications with DMD and Muscular Dystrophy, Animal |
Disease Models, Animal Antibodies |
>422 publications with DMD and Disease Models, Animal |
Heart Diseases Antibodies |
>328 publications with DMD and Heart Diseases |
Fibrosis Antibodies |
>296 publications with DMD and Fibrosis |
Necrosis Antibodies |
>239 publications with DMD and Necrosis |
Cardiomyopathies Antibodies |
>182 publications with DMD and Cardiomyopathies |
Organs/Tissues associated with anti-DMD antibody
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